Affiliation: Hannover Medical School
Stanke F, Becker T, Kumar V, Hedtfeld S, Becker C, Cuppens H, et al
. Genes that determine immunology and inflammation modify the basic defect of impaired ion conductance in cystic fibrosis epithelia. J Med Genet. 2011;48:24-31 pubmed publisher
..Awareness of non-genetic factors such as improvement of patient care over time is crucial for the interpretation of CF modifier studies. ..
Awah C, Tamm S, Hedtfeld S, Steinemann D, Tummler B, Tsiavaliaris G, et al
. Mechanism of allele specific assembly and disruption of master regulator transcription factor complexes of NF-KBp50, NF-KBp65 and HIF1a on a non-coding FAS SNP. Biochim Biophys Acta. 2016;1859:1411-1428 pubmed publisher
..This finding provides the highly needed mechanistic insight into how the molecular etiology of regulatory SNPs can be understood in functional terms. ..
Toth B, Wilke M, Stanke F, Dorsch M, Jansen S, Wedekind D, et al
. Very mild disease phenotype of congenic CftrTgH(neoim)Hgu cystic fibrosis mice. BMC Genet. 2008;9:28 pubmed publisher
Charizopoulou N, Wilke M, Dorsch M, Bot A, Jorna H, Jansen S, et al
. Spontaneous rescue from cystic fibrosis in a mouse model. BMC Genet. 2006;7:18 pubmed
..In order to further investigate whether these genetic differences have an impact on the disease phenotype of cystic fibrosis we characterised the phenotype of the two inbred strains...
Mekus F, Laabs U, Veeze H, Tummler B. Genes in the vicinity of CFTR modulate the cystic fibrosis phenotype in highly concordant or discordant F508del homozygous sib pairs. Hum Genet. 2003;112:1-11 pubmed
..We conclude that disease manifestation in CF is modulated by loci in the partially imprinted region 3' of CFTR that determine stature, food intake and energy homeostasis, such as the Silver-Russel-Syndrome candidate gene region and LEP. ..
Stanke F, Becker T, Cuppens H, Kumar V, Cassiman J, Jansen S, et al
. The TNFalpha receptor TNFRSF1A and genes encoding the amiloride-sensitive sodium channel ENaC as modulators in cystic fibrosis. Hum Genet. 2006;119:331-43 pubmed
Stanke F, Becker T, Hedtfeld S, Tamm S, Wienker T, Tummler B. Hierarchical fine mapping of the cystic fibrosis modifier locus on 19q13 identifies an association with two elements near the genes CEACAM3 and CEACAM6. Hum Genet. 2010;127:383-94 pubmed publisher
Stanke F, Hedtfeld S, Becker T, Tummler B. An association study on contrasting cystic fibrosis endophenotypes recognizes KRT8 but not KRT18 as a modifier of cystic fibrosis disease severity and CFTR mediated residual chloride secretion. BMC Med Genet. 2011;12:62 pubmed publisher